ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_004813.4(PEX16):c.952+18C>T rs112068553 0.00535
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000287.4(PEX6):c.1479+11C>T rs114137311 0.00471
NM_004813.4(PEX16):c.943C>T (p.Leu315=) rs150774189 0.00426
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156 0.00178
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506 0.00079
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.2806+14C>T rs544074442 0.00003
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_004813.4(PEX16):c.162T>C (p.Ser54=) rs552583175 0.00001
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_004813.4(PEX16):c.346= (p.Val116=)
NM_004813.4(PEX16):c.359+13del rs775047767
NM_004813.4(PEX16):c.888-3dup rs2134686844
NM_004813.4(PEX16):c.952+20_952+21del rs541010446

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